HFE rs1800561: What Your Genotype Means
The rs1800561 variant is a genetic change located within the HFE gene, which plays a critical role in regulating iron absorption in the body. Researchers study this variant alongside other well-known HFE mutations to better understand its potential influence on iron metabolism and related health traits.
What each genotype means
Typical HFE variant profile
This genotype represents the most common form of the HFE gene at this specific location. It is considered the reference sequence in most populations and is not associated with the iron-overload conditions linked to other HFE variants.
This is the most common genotype found in the vast majority of individuals across all global populations.
HFE variant carrier
You carry one copy of the variant allele (p.Val162Met). Research on this specific variant is limited, and it is generally not considered a primary driver of hereditary hemochromatosis compared to well-known variants like C282Y or H63D. You should discuss any concerns regarding iron metabolism or blood test results with your healthcare provider.
Carried by approximately 2% to 6% of individuals in European populations, with lower frequencies observed in other ancestral groups.
HFE variant homozygous
You carry two copies of the p.Val162Met variant. Evidence regarding the clinical significance of this genotype is limited, and it is not typically associated with the severe iron overload seen in classical hemochromatosis. Because clinical interpretation of this specific variant remains evolving, consult with a physician if you have concerns about your iron levels.
This genotype is rare, occurring in less than 1% of the general population.
Understanding the rs1800561 Variant
The rs1800561 variant is a single nucleotide polymorphism (SNP) located within the HFE gene. In genetic terms, this variant results in a coding change known as p.Val162Met, where the amino acid valine is replaced by methionine at position 162 of the HFE protein. This gene is situated on chromosome 6 and is widely recognized for its involvement in hereditary hemochromatosis, a condition characterized by the body's inability to properly regulate iron absorption. While rs1800561 is often analyzed in the context of iron-related studies, it is distinct from the more commonly discussed HFE variants like C282Y and H63D. Scientists track these variations to map how specific changes in the DNA sequence might alter the structure or function of the resulting protein, potentially impacting how the body manages essential minerals like iron.
The Role of the HFE Gene
The HFE gene provides the instructions for creating the HFE protein, which is primarily found on the surface of cells in the liver and the small intestine. This protein acts as a regulator, interacting with the transferrin receptor to control the amount of iron that enters cells from the bloodstream. By sensing iron levels, the HFE protein helps ensure that the body absorbs an appropriate amount of iron from the diet. When the HFE gene is disrupted, this regulatory mechanism can fail, leading to excessive iron absorption. Over time, this excess iron can accumulate in organs such as the liver, heart, and pancreas, potentially causing tissue damage. Because of its central role in iron homeostasis, the HFE gene is a primary focus for researchers investigating both common and rare iron-storage disorders.
Research and Evidence Strength
The evidence linking rs1800561 to specific clinical outcomes is currently considered limited. While the HFE gene is definitively linked to hereditary hemochromatosis, most clinical cases are driven by specific, well-characterized mutations. Researchers often include rs1800561 in broader genetic studies to determine if it contributes to iron-related traits or modifies the risk associated with other HFE variants. Unlike the primary mutations that have strong, established clinical significance, the functional impact of the p.Val162Met change is still being explored. It is important to note that genetic associations observed in research populations do not always translate to individual clinical risk. Because the evidence is not yet definitive, this variant is generally not used as a standalone diagnostic tool in clinical practice for iron overload disorders.
Interpreting Your Genetic Information
If you have received information about your rs1800561 genotype, it is essential to view it within the context of current scientific understanding. Genetic variants are common, and having a particular genotype does not necessarily mean you will develop a health condition. Because the evidence for rs1800561 is limited, it is not a standard marker for diagnosing iron-related diseases. If you are concerned about your iron levels or have a family history of iron-storage disorders, the most reliable approach is to consult with a healthcare professional. They can order appropriate blood tests, such as serum ferritin or transferrin saturation, which provide a direct measure of your iron status. Never use genetic data to make medical decisions or change your diet without professional guidance, as clinical testing remains the gold standard for assessing health.
How common is this variant?
The rs1800561 variant is relatively uncommon, with a minor allele frequency typically reported between 0.01 and 0.03 in European populations.
Frequently asked questions
Is rs1800561 the same as the hemochromatosis gene?
The rs1800561 variant is located within the HFE gene, which is the primary gene associated with hereditary hemochromatosis. However, it is not the main mutation responsible for the condition; that is typically associated with other specific variants like C282Y.
Should I be worried if I have the rs1800561 variant?
The presence of this variant does not automatically indicate a health problem. Because the evidence for its clinical impact is limited, it is not used to diagnose disease, and you should discuss any health concerns with your doctor.
How can I check my iron levels?
If you are concerned about iron overload, you should ask your healthcare provider for blood tests such as serum ferritin and transferrin saturation. These tests provide a direct and accurate measurement of your body's iron status.
Does this variant affect how I should eat?
There is no evidence that this specific variant requires a change in diet. Always consult with a registered dietitian or your physician before making significant changes to your nutrition based on genetic information.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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The Ser65Cys missense polymorphism in HFE linked to mild systemic iron regulation changes and downstream impacts on hypogonadotropic reproductive function.
The C282Y missense variant in HFE is the primary genetic cause of hereditary hemochromatosis, leading to iron overload.
Common HFE missense variant H63D associated with hereditary hemochromatosis and mild iron overload risk.
HFE p.His63Asp (H63D) variant contributing to hereditary hemochromatosis risk, especially in compound heterozygosity with C282Y.
Known as HFE S65C (c.193A>T), this missense variant is associated with mild variations in transferrin saturation and iron accumulation, often evaluated alongside C282Y and H63D.
The H63D missense variant in HFE, associated with mild iron overload phenotypes.